The AFG3L2 gene homepage

General information
Gene symbol AFG3L2
Gene name AFG3 ATPase family member 3-like 2 (S. cerevisiae)
Chromosome 18
Chromosomal band p11.21
Imprinted Unknown
Genomic reference NG_023361.1
Transcript reference NM_006796.2
Exon/intron information NM_006796.2 exon/intron table
Associated with diseases SCA28, SPAX5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Alfredo Brusco
Total number of public variants reported 109
Unique public DNA variants reported 74
Individuals with public variants 518
Hidden variants 2
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created June 18, 2010
Date last updated November 27, 2023
Version AFG3L2:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006796.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 315
Entrez Gene 10939
PubMed articles AFG3L2
OMIM - Gene 604581
OMIM - Diseases SCA28 (ataxia, spinocerebellar, type 28 (SCA-28))
SPAX5 (ataxia, spastic, type 5, autosomal recessive (SPAX-5))
GeneCards AFG3L2
GeneTests AFG3L2
Orphanet AFG3L2

Active transcripts




NCBI ID     

NCBI Protein ID     

00002203 18 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) NM_006796.2 NP_006787.2 109

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